Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062634 | SCV001227448 | uncertain significance | Ataxia-telangiectasia-like disorder | 2022-08-16 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 857036). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 650 of the MRE11 protein (p.Asp650His). |
National Health Laboratory Service, |
RCV002225790 | SCV002504800 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002462306 | SCV002755753 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-06 | criteria provided, single submitter | clinical testing | The p.D650H variant (also known as c.1948G>C), located in coding exon 17 of the MRE11A gene, results from a G to C substitution at nucleotide position 1948. The aspartic acid at codon 650 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |